Recombinant Human Sodium-dependent phosphate transport protein 2A (SLC34A1), partial

1. Our findings show that dysfunction of the human NaPiIIa causes severe renal calcification that may eventually lead to reduced kidney function, rather than complications of phosphate loss PMID: 27378183
2. Our findings expand the phenotypic spectrum of NaPi-IIa disruption, reinforce its link with proximal tubular impairment, enable longitudinal study of the natural history of the disease PMID: 29029121
3. Biallelic mutations in CYP24A1 or SLC34A1 were associated with infantile idiopathic hypercalcemia with vitamin D hypersensitivity PMID: 28470390
4. The identification of autosomal-recessive SLC34A1 mutations in infants with idiopathic infantile hypercalcemia now demonstrates a crucial role of renal sodium-phosphate cotransporter 2A for calcium metabolism as well as phosphate balance in humans PMID: 26047794
5. Estrogen downregulated NaPi-IIa only in U20S cells expressing both ERalpha and ERbeta, but not in cells expressing either receptor alone. PMID: 25608964
6. A novel homozygous mutation in the gene encoding the renal sodium-dependent phosphate transporter SLC34A1 was identified in two siblings with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis. PMID: 25050900
7. B-RAF increases the cell surface protein abundance and activity of the type II Na+-coupled phosphate transporters NaPi-IIa and NaPi-IIb. PMID: 24258620
8. JAK2 contributes to the regulation of phosphate transporter NaPiIIa PMID: 23313484
9. Results indicate that the PDZ1 domain is critical for NHERF1-NPT2a interaction in humans and for the control of NPT2a expression at the plasma membrane. PMID: 22506049
10. Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia. PMID: 21597970
11. Results suggest that a 31-kDa nuclear protein from kidney-derived cells binds to the C/EBP-like region of the type II Na/Pi-cotransporter promoter. PMID: 9683733
12. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling. PMID: 20335586
13. type IIc is a growth-related renal Na/P(i) cotransporter, which has a high affinity for P(i) and is electroneutral PMID: 11880379
14. mutations in the NPT2 gene may contribute to nephrocalcinosis in a subset of patients with familial hypercalciuria PMID: 12674325
15. In Xenopus oocyte expression experiments P(i)-induced currents were reduced in mutants, whereas P(i) and Na affinities and other transport characteristics were not affected PMID: 14672348
16. Taken together, these findings suggest that ECL-1 and ECL-4 may not directly form part of the transport pathway, but specific sites in these linkers can interact directly or indirectly with parts of NaPi-IIa. PMID: 15504898
17. The results allowed us to modify previous models for the transport cycle of NaPi-II transporters by including voltage dependency of HPO4(2-) binding and proton modulation of the first Na+ binding step. PMID: 15613617
18. compartmentalization may play an important role in the down-regulation of NaPi-IIa via endocytosis PMID: 16105044
19. Although genetic variants of NPT2a are not rare, they do not seem to be associated with clinically significant renal phosphate or calcium handling anomalies in a large cohort of hypercalciuric stone-forming pedigrees PMID: 16688119
20. Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis. PMID: 16955105

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HGNC: 11019

OMIM: 182309

KEGG: hsa:6569

STRING: 9606.ENSP00000321424

UniGene: Hs.936